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Shprintzen-Goldberg syndrome: a clinical analysis.
Greally MT, Carey JC, Milewicz DM, Hudgins L, Goldberg RB, Shprintzen RJ, Cousineau AJ, Smith WL Jr, Judisch GF, Hanson JW. Greally MT, et al. Am J Med Genet. 1998 Mar 19;76(3):202-12. Am J Med Genet. 1998. PMID: 9508238 Review.
Shprintzen-Goldberg syndrome is one of a group of disorders characterized by craniosynostosis and marfanoid habitus. ...However, radiologic investigations appear to be more specific, since an abnormality of the first and second cervical vertebrae, hydrocephal …
Shprintzen-Goldberg syndrome is one of a group of disorders characterized by craniosynostosis and marfanoid habitus. .. …
Shprintzen-Goldberg syndrome: case report.
Topouzelis N, Markovitsi E, Antoniades K. Topouzelis N, et al. Cleft Palate Craniofac J. 2003 Jul;40(4):433-6. doi: 10.1597/1545-1569_2003_040_0433_sscr_2.0.co_2. Cleft Palate Craniofac J. 2003. PMID: 12846610
The Shprintzen-Goldberg syndrome is an extremely rare syndrome with a characteristic face. ...
The Shprintzen-Goldberg syndrome is an extremely rare syndrome with a characteristic face. ...
Cardiovascular manifestations in Marfan syndrome and related diseases; multiple genes causing similar phenotypes.
Cook JR, Carta L, Galatioto J, Ramirez F. Cook JR, et al. Clin Genet. 2015;87(1):11-20. doi: 10.1111/cge.12436. Epub 2014 Jul 10. Clin Genet. 2015. PMID: 24867163 Review.
Cardiovascular abnormalities are the major cause of morbidity and mortality in Marfan syndrome (MFS) and a few clinically related diseases that share, with MFS, the pathogenic contribution of dysregulated transforming growth factor beta (TGFbeta) signaling. They include Loeys-Die …
Cardiovascular abnormalities are the major cause of morbidity and mortality in Marfan syndrome (MFS) and a few clinically related diseases t …
Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.
Sood S, Eldadah ZA, Krause WL, McIntosh I, Dietz HC. Sood S, et al. Nat Genet. 1996 Feb;12(2):209-11. doi: 10.1038/ng0296-209. Nat Genet. 1996. PMID: 8563763
While it remains unclear whether these cases represent a discrete clinical entity with a single aetiology, they have been pragmatically grouped under the rubric Marfanoid-craniosynostosis or Shprintzen-Goldberg syndrome (SGS). Because of the significant clini …
While it remains unclear whether these cases represent a discrete clinical entity with a single aetiology, they have been pragmatically grou …
Complications of Insufficient Dura and Blood Loss During Surgical Intervention in Shprintzen-Goldberg Syndrome: A Case Report.
O'Dougherty GR, Fulkerson DH, Kern M, Haldar K, Calhoun B. O'Dougherty GR, et al. Am J Case Rep. 2019 Aug 8;20:1159-1169. doi: 10.12659/AJCR.914924. Am J Case Rep. 2019. PMID: 31391415 Free PMC article.
BACKGROUND Shprintzen-Goldberg syndrome (SGS) is an extremely rare collagenopathy, most often caused by autosomal-dominant mutations in the SKI proto-oncogene, which is a component of the transforming growth factor beta (TGF-ss) signaling pathway. ...
BACKGROUND Shprintzen-Goldberg syndrome (SGS) is an extremely rare collagenopathy, most often caused by autosomal-domin …
Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.
Nayak SS, Schneeberger PE, Patil SJ, Arun KM, Suresh PV, Kiran VS, Siddaiah S, Maiya S, Venkatachalagupta SK, Kausthubham N, Kortüm F, Rau I, Wey-Fabrizius A, Van Den Heuvel L, Meester J, Van Laer L, Shukla A, Loeys B, Girisha KM, Kutsche K. Nayak SS, et al. Sci Rep. 2021 Jan 12;11(1):764. doi: 10.1038/s41598-020-80755-7. Sci Rep. 2021. PMID: 33436942 Free PMC article.
We obtained a molecular diagnosis in 45/53 (85%) index patients, in which 36/53 (68%) had rare variants in FBN1 (Marfan syndrome; 63 patients in total), seven (13.3%) in TGFBR1/TGFBR2 (Loeys-Dietz syndrome; nine patients in total) and two patients (3.7%) in SKI (Shprintzen …
We obtained a molecular diagnosis in 45/53 (85%) index patients, in which 36/53 (68%) had rare variants in FBN1 (Marfan syndrome; 63 patient …
Shprintzen-Goldberg marfanoid syndrome: a case followed up for 24 years.
Stoll C. Stoll C. Clin Dysmorphol. 2002 Jan;11(1):1-7. doi: 10.1097/00019605-200201000-00001. Clin Dysmorphol. 2002. PMID: 11822698
A patient with Shprintzen-Goldberg syndrome was followed up for 24 years. The patient's parents were unrelated and unaffected. ...
A patient with Shprintzen-Goldberg syndrome was followed up for 24 years. The patient's parents were unrelated and unaf …
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.
Yauy K, Tran Mau-Them F, Willems M, Coubes C, Blanchet P, Herlin C, Taleb Arrada I, Sanchez E, Faure JM, Le Gac MP, Prodhomme O, Boland A, Meyer V, Rivière JB, Duffourd Y, Deleuze JF, Guignard T, Captier G, Barat-Houari M, Genevieve D. Yauy K, et al. Genet Med. 2018 Feb;20(2):269-274. doi: 10.1038/gim.2017.109. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771243 Free article.
This syndrome should be considered in the prenatal period in light of the severe outcome and as an alternative diagnosis to Antley-Bixler or Shprintzen-Goldberg syndrome....
This syndrome should be considered in the prenatal period in light of the severe outcome and as an alternative diagnosis to Antley-Bixler or …
A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability.
Zhang L, Xu X, Sun K, Sun J, Wang Y, Liu Y, Yang N, Tao C, Cai B, Shi G, Zhang F, Shi J. Zhang L, et al. Am J Med Genet A. 2019 Jun;179(6):936-939. doi: 10.1002/ajmg.a.61088. Epub 2019 Mar 18. Am J Med Genet A. 2019. PMID: 30883014
Shprintzen-Goldberg syndrome (SGS) is a rare systemic connective tissue disorder characterized by craniofacial, skeletal, and cardiovascular manifestations. ...
Shprintzen-Goldberg syndrome (SGS) is a rare systemic connective tissue disorder characterized by craniofacial, skeleta …
11 results